Ready. Set. GO!

After several weeks of attempting to take Landon to the skating ring to utilize the space so he can walk with his gait trainer,  we finally made it out Sunday. And since we were going to my nieces birthday party, what better timing. I strap him in and we head over to the main floor to begin but he suddenly became fussy--I believe he got a little startled by all the loud music. So I picked him up and we heading back towards the party section and he jumped right into action!!! GO LANDON!!!

SN: This was all he gave up, which was good enough for me!

Connecting Comfort

Just when I thought my boy was a part of that 3 out of 99 percent being diagnosed with a rare genetic condition--here it is; I have been able to find families on Facebook whose child(ren) have the same rare genetic condition. The only thing I was thinking of after receiving his diagnosis was WOW... what is that, how do we move forward, how will this affect his future & what’s next for him, does this officially separate him from other toddlers his age, and does this consider him a special needs child (which I asked)... I could go on and on. But as of today, I have accepted and I now own his condition and we're moving forward, one day at a time.

In the last 2 days I have been connecting with other families and reading their stories and I feel like that 3 percent has moved to at least 40. The feeling of knowing that my boy isn't the only one out here with a unique condition gives me such joy & adds more comfort. I've even joined a Kleefstra group, and from reading through the posts, it appears the families have become uniquely united. Unfortunately, I'm not able to say any of the families are local or near Washington, DC; but just knowing the option of conversing with other Kleefstra families is there; make me appreciate the uniqueness of this journey even more.

This has given me inspiration to create a local support group, not only for my son but for other kids & families with existing rare genetic disorders and health conditions.

#KickingKleefstraInTheDirt

#StayTunedForMySupportGroup

Upcoming Support Events

Mark your calenders:

**February 28th -- Rare Genetic Disorder/Disease Day**
Wear a jean ribbon in support of Landon & other people living with Rare Genetic Disorders/Diseases

Rare Disease Day

**May 3rd -- March of Dimes March for Babies Walk**
Get ready for another walk with Team LRG. For more information on the walk and/or to join our team go to http://www.marchforbabies.org/team/t2113825

March of Dimes March for Babies

Much Love,
Team LRG

The Anxiety of NOT Knowing

So yesterday I woke up and started to get ready for our normal day. I had noticed Landon sounded a bit raspy during his sleep, so I decided to give him a nebulizer treatment; which I prefer to do while he is asleep since he doesn’t always sit still. While I was standing & leaning in towards him holding the nozzle I saw he was trembling, but I didn't think nothing of it, I kind of thought he was cold--but knowing he doesn't like covers never dawned on me. I then moved along after finishing his treatment, got dressed and went to warm up the car. Not until I came back in and attempted to get him dressed is when I felt he was burning up to the touch. But of course I'm thinking it’s me since I did just come from outside, so I went to reach for the thermometer and took his temperature, immediately with no time the thermometer started jumping up to the 100's, and it finally stopped at 104, which meant 105 (adding the extra degree).

Now I'm officially all over the place...thinking... ohh boy, what’s wrong, it has to be a cold, who can keep him, I can’t take him to daycare, I’m going to be late (once again) for work, blahh blahh blahhh. So I called my mom; luckily she was available and told me to bring him on. I dressed him in his onesie, gave him some Little Remedies and packed his bag. We then headed to the car, I texted dad, called my job and off we went. After riding I started thinking I'll just take him to the emergency room after work if the fever doesn’t break, or I'll leave work at lunch. Not until I called my best-friend to ask her opinion, she told me something I had never heard off, a fever ranging between 103-105 degrees can cause a potential caeser, so she recommended I take him immediately, or at least give it an hour or two before going into work and meanwhile wipe him down with a cold rag and give him Tylenol (which I already did) to help bring the fever down. Then finally it registered, with him having the Kleefstra syndrome that makes him prone to infections, so I went straight to Children's emergency room.

Of course upon arriving you must first do the usual triage check in and they ask you lots questions about their medical history, so I give the run down and as soon as I say he has "Kleefstra" the nurse says, "what is that"?? I attempted to explain it best possible as I know, but she then precedes to google it, and then instructed me to wait to be called. Luckily, the wait wasn’t to long before we were called by the doctor, to answer the all the same entire questions over again. I begin to explain everything to the doctor, but by now I’m a little annoyed and overwhelmed with the thousand and one questions, my reply was, "well as you see my son is non-verbal, so unfortunately he can’t tell me he doesn’t feel good or what’s wrong", she nods, okay, I understand. She then asks if she can examine him and informs me what her plan is, which consisted of possible urine sample but first a chest x-ray.

The verdict was in and he was diagnosed with Pneumonia. We were told after giving him his first dosage of medication and discharge instructions we can leave.

The point of this message is, its agonizing not knowing when my boy isn’t feeling well, not knowing what’s wrong with him, not knowing when he's thirsty or just when he is bothered. However, the plus is of course we all know when he is hungry, he will whine and of course by keeping up with the last time he ate. I've never questioned God, but I do often wonder what it would be like if he were a regular healthy toddler. But in our case, I don’t ponder on the thought too long, I quickly remind myself to be thankful with my special blessing, not because he's considered a child with special needs, BUT because he's amazing, adorable, loving, all mines & because GOD SAID SO!

A friend recently told me, God only gives special kids to special people (I guess that means Dad & I are special people). #smiles

Landon & I waiting on the doctors to return after the x-ray...

Ole' Happy Day

Happy New Year!!!

 

Landon standing supported with his walker during PT therapy session.

 

Below I have shared some therapy notes....

(picture taken by Negar, PT Therapist; during therapy session)



THERAPY NOTE – OT (12/31)  

Worked with Landon at the table during breakfast, in the hallway, and therapy room. Landon had finished eating but he was still drinking his milk. He appeared done as he threw the cup down. When given more milk, he did accept more. Min A to stand at sink and mod to max A to wash and dry his hands. Used the gait trainer to walk with him down the hallway to the therapy room. He immediately was interested in banging on the ball, taking turns with OT. He also comes up to a kneeling position easily when the ball is stabilized. He attempted to use the ball to pull to stand twice but could not make it all the way up. He was interested in exploring the room but not in engaging in any table top toys today. Continue with IFSP goals.

 

THERAPY NOTE – OT (12/30)

Worked with Landon in the hallway during transitions and in the therapy room. In the hall mirror, Landon will look at himself and play with the tambourine that is hanging from the mirror. In the therapy room, worked on standing balance while playing with a toy. Positioned him on the ball in prone, supine and transitioned him into sitting several times. Attempted to position him in straddle over the bolster to work on bending and reaching, but Landon crawled off the bolster. In a straddle position on the floor, Landon put all the shapes back into the shape sorter (with the cover off). Less throwing of toys today. Continue with attention, purposeful play, grasp.

THERAPY NOTE - OT (12/27)

Worked with Landon in the hallway and therapy room. Landon was upset upon arrival. He had eaten 3 english muffins and wanted more. He did not eat any fruit or eggs. He was brought out into the hallway and we stood with the walker for a few moments and started walking down the hallway. With some singing, he became more animated and started to smile. He smiled when we reached the mirror and he handled the tambourine. Worked in standing for a few minutes singing and encouraging him to engage his hands in various gestures. He maintained his balance for a few seconds at a time. In the therapy room, he stood at the bench (leaning into bench at times) to work with shape sorter. He slid the top partially off the container, took pieces out and attempted to stack two blocks. He also picked up two blocks in one hand at a time. He did not sustain this play for much longer as he started to throw the blocks. Provided movement on the ball. He tolerated being on his stomach for a few minutes as well as a transition into sitting but did not want to stay sitting on the ball. He did take turns with OT to bang on the large ball to make noise. Continue with IFSP goals.

THERAPY NOTE – Speech (12/20)

Goal: Increase in gestures/signs./sounds/words Strategy: Visual + verbal model, imitation, face-to-face Progress: Landon did well today. He immediately began smiling when seeing SLP and hearing her sing. While SLP singing Twinkle Little Star, Landon gesturing with his arms upward, Landon rolling his arms when hearing Wheels on Bus. Landon bringing hands together in modified sign for "more" today when provided with a verbal prompt. Landon vocalizing with /a/ sounds while moving arms and legs in excitement.

THERAPY NOTE – OT (12/18)

Worked with Landon in his and other classrooms. He appeared somewhat sad today at the beginning of the session and was clinging to OT. Positioned him in standing and walked him out into the hallway. He immediately dropped to his knees and started crawling. Worked in another classroom that has small steps and a slide. He crawled up the steps and seemed fearful of going through the tunnel. OT assisted him through the tunnel and he smiled. Crawled down the small slide with mod A. He enjoyed t he wheel that he could turn that was on the platform of this toy. He would spin it and then put his hand on OT's hand to spin it. He showed some overstimulation with this repetitive movement. Needed to move him away. He did not want to engage with a puzzle today. Used the walked to walk him back to the classroom. Continue with IFSP goals.

THERAPY NOTE - Speech (12/17)

Goal: Increase in gestures/signs/sounds/words Strategy: Face-to-face, imitation, visual model Progress: Landon seen shortly after drop off. Landon sitting in front of SLP and immediately became excited when SLP singing familiar songs (e.g. Wheels on bus, Twinkle Little Star). With HOH Landon gesturing to up and down and I love you - from Wheels on bus. Landon did not sign more today independently when provided with verbal + visual prompt, benefited from HOH. Landon vocalizing /d/ sound x1.

THERAPY NOTE – OT (12/17)

Worked with Landon in the hallway and therapy room. Landon walked with the walker and assistance from OT at his hands from classroom to the therapy room and back. Worked on increasing trunk control and stability while in standing and looking in the mirror and engaging with table top toys. He is standing with more stability and can maintain a few seconds without holding on. At the table, he played with a shape sorter. He initially threw the pieces around but then was able to put them all into the open container. When the top was put on, he continued to put the pieces on top of the cover. He did not demonstrate trial and error but allowed hand over hand to put all 8 pieces in. He looked happy when the pieces fell into the hole. Performed some face and ear massage for overall calming. Landon did great today showing improved standing balance and engaging in more purposeful play. Continue with IFSP goals.

THERAPY NOTE – OT (12/16)

Landon tolerated the session well. He stood unsupported for 4 seconds x 7 trials today. He worked on transitioning from stand to floor sitting with one hand supported and one hand reaching down for the floor. Landon continued to practice his walking using the loaner gait trainer (used as a posterior wheeled walker) with decreased assistance to keep his grasp on the handles today. He walked with fair trunk control on level surfaces 40 feet x 2 and 20 feet x 3 trials. Continue with plan of care.